A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306067



Internal ID14806329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32727796..32727797hg38UCSC Ensembl
InnerchrX:32727764..32727829hg38UCSC Ensembl
OuterchrX:32727763..32727830hg38UCSC Ensembl
chrX:32745913..32745914hg19UCSC Ensembl
InnerchrX:32745881..32745946hg19UCSC Ensembl
OuterchrX:32745880..32745947hg19UCSC Ensembl
chrX:32655834..32655835hg18UCSC Ensembl
InnerchrX:32655867..32655802hg18UCSC Ensembl
OuterchrX:32655801..32655868hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746714, essv7759248, essv7762244, essv7758803, essv7746519, essv7755835
SamplesNA18489, NA18508, NA19129, NA19102, NA18858, NA19138
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306067
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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